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Aliases for TNPO3 Gene

Aliases for TNPO3 Gene

  • Transportin 3 2 3
  • Limb Girdle Muscular Dystrophy 1F (Autosomal Dominant) 2 3
  • Transportin-SR 3 4
  • Importin 12 2 3
  • TRN-SR 3 4
  • Imp12 3 4
  • TRNSR 3 6
  • IPO12 3 4
  • Transportin-3 3
  • Importin-12 4
  • TRN-SR2 3
  • MTR10A 3
  • LGMD1F 3

External Ids for TNPO3 Gene

Previous HGNC Symbols for TNPO3 Gene

  • LGMD1F

Previous GeneCards Identifiers for TNPO3 Gene

  • GC07M128149
  • GC07M128148
  • GC07M128188
  • GC07M128382
  • GC07M128594
  • GC07M122955

Summaries for TNPO3 Gene

Entrez Gene Summary for TNPO3 Gene

  • The protein encoded by this gene is a nuclear import receptor for serine/arginine-rich (SR) proteins such as the splicing factors SFRS1 and SFRS2. The encoded protein has also been shown to be involved in HIV-1 infection, apparently through interaction with the HIV-1 capsid protein. Two transcript variants encoding different isoforms as well as a noncoding transcript have been found for this gene.[provided by RefSeq, Jul 2010]

GeneCards Summary for TNPO3 Gene

TNPO3 (Transportin 3) is a Protein Coding gene. Diseases associated with TNPO3 include muscular dystrophy, limb-girdle, type 1f and autosomal dominant limb-girdle muscular dystrophy type 1f. GO annotations related to this gene include receptor activity. An important paralog of this gene is IPO13.

UniProtKB/Swiss-Prot for TNPO3 Gene

  • Seems to function in nuclear protein import as nuclear transport receptor. In vitro, mediates the nuclear import of splicing factor SR proteins RBM4, SFRS1 and SFRS2, by recognizing phosphorylated RS domains.

Gene Wiki entry for TNPO3 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for TNPO3 Gene

Genomics for TNPO3 Gene

Regulatory Elements for TNPO3 Gene

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for TNPO3 Gene

Start:
128,954,180 bp from pter
End:
129,055,173 bp from pter
Size:
100,994 bases
Orientation:
Minus strand

Genomic View for TNPO3 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for TNPO3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for TNPO3 Gene

Proteins for TNPO3 Gene

  • Protein details for TNPO3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9Y5L0-TNPO3_HUMAN
    Recommended name:
    Transportin-3
    Protein Accession:
    Q9Y5L0
    Secondary Accessions:
    • A4D1K9
    • C9IZM0
    • Q6NUM1
    • Q96G71
    • Q96GU9
    • Q9Y3R2

    Protein attributes for TNPO3 Gene

    Size:
    923 amino acids
    Molecular mass:
    104203 Da
    Quaternary structure:
    • Interacts with phosphorylated SFRS1 and SFRS2. Interacts with NUP62 and RBM4.
    SequenceCaution:
    • Sequence=AAD38537.1; Type=Frameshift; Positions=920; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for TNPO3 Gene

    Alternative splice isoforms for TNPO3 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for TNPO3 Gene

Proteomics data for TNPO3 Gene at MOPED

Post-translational modifications for TNPO3 Gene

  • Ubiquitination at Lys628
  • Modification sites at PhosphoSitePlus

Other Protein References for TNPO3 Gene

No data available for DME Specific Peptides for TNPO3 Gene

Domains for TNPO3 Gene

Gene Families for TNPO3 Gene

HGNC:
  • IPO :Importins

Protein Domains for TNPO3 Gene

Suggested Antigen Peptide Sequences for TNPO3 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with TNPO3: view

No data available for UniProtKB/Swiss-Prot for TNPO3 Gene

Function for TNPO3 Gene

Molecular function for TNPO3 Gene

UniProtKB/Swiss-Prot Function: Seems to function in nuclear protein import as nuclear transport receptor. In vitro, mediates the nuclear import of splicing factor SR proteins RBM4, SFRS1 and SFRS2, by recognizing phosphorylated RS domains.

Gene Ontology (GO) - Molecular Function for TNPO3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004872 receptor activity TAS 10366588
GO:0005488 binding --
GO:0005515 protein binding IPI 12628928
genes like me logo Genes that share ontologies with TNPO3: view

Phenotypes for TNPO3 Gene

genes like me logo Genes that share phenotypes with TNPO3: view

Animal Model Products

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for TNPO3

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targeting and HOMER Transcription for TNPO3 Gene

Localization for TNPO3 Gene

Subcellular locations from UniProtKB/Swiss-Prot for TNPO3 Gene

Cytoplasm. Nucleus.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for TNPO3 Gene COMPARTMENTS Subcellular localization image for TNPO3 gene
Compartment Confidence
nucleus 5
cytosol 2
endoplasmic reticulum 1
extracellular 1
mitochondrion 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for TNPO3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
GO:0005737 cytoplasm IEA --
GO:0043231 intracellular membrane-bounded organelle IDA --
genes like me logo Genes that share ontologies with TNPO3: view

Pathways for TNPO3 Gene

SuperPathways for TNPO3 Gene

No Data Available

Gene Ontology (GO) - Biological Process for TNPO3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006810 transport --
GO:0035048 splicing factor protein import into nucleus IDA 12628928
genes like me logo Genes that share ontologies with TNPO3: view

No data available for Pathways by source for TNPO3 Gene

Transcripts for TNPO3 Gene

Unigene Clusters for TNPO3 Gene

Transportin 3:
Representative Sequences:

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for TNPO3

Primer Products

  • OriGene qSTAR qPCR primer pairs in human,mouse,rat for TNPO3

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for TNPO3 Gene

ExUns: 1a · 1b · 1c ^ 2 ^ 3 ^ 4a · 4b ^ 5 ^ 6 ^ 7 ^ 8a · 8b ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19 ^ 20 ^ 21 ^ 22 ^
SP1: -
SP2:
SP3: - -
SP4: - - - -
SP5:

ExUns: 23 ^ 24 ^ 25
SP1:
SP2: -
SP3:
SP4:
SP5:

Relevant External Links for TNPO3 Gene

GeneLoc Exon Structure for
TNPO3
ECgene alternative splicing isoforms for
TNPO3

Expression for TNPO3 Gene

mRNA expression in normal human tissues for TNPO3 Gene

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for TNPO3 Gene

SOURCE GeneReport for Unigene cluster for TNPO3 Gene Hs.193613

mRNA Expression by UniProt/SwissProt for TNPO3 Gene

Q9Y5L0-TNPO3_HUMAN
Tissue specificity: Expressed in skeletal muscle.
genes like me logo Genes that share expressions with TNPO3: view

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA differential expression in normal tissues for TNPO3 Gene

Orthologs for TNPO3 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for TNPO3 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia TNPO3 35
  • 99.71 (n)
  • 100 (a)
TNPO3 36
  • 96 (a)
OneToOne
cow
(Bos Taurus)
Mammalia TNPO3 35
  • 94.66 (n)
  • 99.13 (a)
TNPO3 36
  • 99 (a)
OneToOne
dog
(Canis familiaris)
Mammalia TNPO3 35
  • 94.9 (n)
  • 99.67 (a)
TNPO3 36
  • 100 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Tnpo3 35
  • 90.79 (n)
  • 99.35 (a)
Tnpo3 16
Tnpo3 36
  • 99 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia TNPO3 36
  • 98 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia TNPO3 36
  • 93 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Tnpo3 35
  • 90.9 (n)
  • 99.24 (a)
chicken
(Gallus gallus)
Aves TNPO3 35
  • 77.27 (n)
  • 93.54 (a)
TNPO3 36
  • 93 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia TNPO3 36
  • 89 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Xl.29508 35
tropical clawed frog
(Silurana tropicalis)
Amphibia Str.15240 35
tnpo3 35
  • 76.25 (n)
  • 88.07 (a)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.6715 35
zebrafish
(Danio rerio)
Actinopterygii tnpo3 35
  • 73.06 (n)
  • 85.81 (a)
tnpo3 36
  • 85 (a)
OneToOne
zgc55409 35
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP003576 35
  • 50.83 (n)
  • 46.42 (a)
fruit fly
(Drosophila melanogaster)
Insecta Trn-SR 35
  • 50.62 (n)
  • 43.12 (a)
Trn-SR 36
  • 42 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea tsr-1 35
  • 43.91 (n)
  • 30.98 (a)
tsr-1 36
  • 28 (a)
OneToOne
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AAR115C 35
  • 39.59 (n)
  • 24.47 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes MTR10 35
  • 40.93 (n)
  • 27.96 (a)
MTR10 36
  • 22 (a)
OneToMany
MTR10 38
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0A02321g 35
  • 39.02 (n)
  • 23.97 (a)
thale cress
(Arabidopsis thaliana)
eudicotyledons AT5G62600 35
  • 40.77 (n)
  • 26.8 (a)
rice
(Oryza sativa)
Liliopsida Os10g0477800 35
  • 42.33 (n)
  • 28.14 (a)
bread mold
(Neurospora crassa)
Ascomycetes NCU06355 35
  • 41.85 (n)
  • 26 (a)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes mtr10 35
  • 40.98 (n)
  • 26.55 (a)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.10940 36
  • 47 (a)
OneToOne
Species with no ortholog for TNPO3:
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for TNPO3 Gene

ENSEMBL:
Gene Tree for TNPO3 (if available)
TreeFam:
Gene Tree for TNPO3 (if available)

Paralogs for TNPO3 Gene

Paralogs for TNPO3 Gene

Pseudogenes.org Pseudogenes for TNPO3 Gene

genes like me logo Genes that share paralogs with TNPO3: view

Variants for TNPO3 Gene

Sequence variations from dbSNP and Humsavar for TNPO3 Gene

SNP ID Clin Chr 07 pos Sequence Context AA Info Type MAF
rs8043 -- 128,967,330(-) GGAGC(C/T)GTCAC reference, synonymous-codon, nc-transcript-variant
rs921403 -- 129,036,670(+) agggc(A/T)ttatA intron-variant
rs1048805 -- 128,955,103(-) gtaaa(A/G)aaaaa utr-variant-3-prime, nc-transcript-variant
rs1072767 -- 129,033,151(-) acttt(C/T)atatg intron-variant
rs1154327 -- 129,005,938(+) cacca(C/T)accca intron-variant

Structural Variations from Database of Genomic Variants (DGV) for TNPO3 Gene

Variant ID Type Subtype PubMed ID
esv2735137 CNV Deletion 23290073
esv2670312 CNV Deletion 23128226
nsv831125 CNV Loss 17160897
nsv507416 CNV Insertion 20534489

Relevant External Links for TNPO3 Gene

HapMap Linkage Disequilibrium report
TNPO3
Human Gene Mutation Database (HGMD)
TNPO3

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for TNPO3 Gene

Disorders for TNPO3 Gene

UniProtKB/Swiss-Prot

TNPO3_HUMAN
  • Limb-girdle muscular dystrophy 1F (LGMD1F) [MIM:608423]: An autosomal dominant myopathy characterized by proximal muscle weakness primarily affecting the lower limbs, but also affecting the upper limbs in most patients. Affected individuals also have distal muscle weakness of the hands and lower leg muscles. The disease has generally a benign clinical course but some individuals with childhood or juvenile onset manifest severe widespread myopathy, leading to wheelchair dependency and respiratory insufficiency. Muscle biopsy shows dystrophic changes with abnormal nuclei, rimmed vacuoles, and filamentous inclusions. {ECO:0000269 PubMed:23667635}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for TNPO3

Genetic Association Database (GAD)
TNPO3
Human Genome Epidemiology (HuGE) Navigator
TNPO3
genes like me logo Genes that share disorders with TNPO3: view

Publications for TNPO3 Gene

  1. Transportin-SR, a nuclear import receptor for SR proteins. (PMID: 10366588) Kataoka N. … Dreyfuss G. (J. Cell Biol. 1999) 2 3 4 23
  2. A human importin-beta family protein, transportin-SR2, interacts with the phosphorylated RS domain of SR proteins. (PMID: 10713112) Lai M.-C. … Tarn W.-Y. (J. Biol. Chem. 2000) 2 3 4 23
  3. Transportin-SR2 mediates nuclear import of phosphorylated SR proteins. (PMID: 11517331) Lai M.-C. … Tarn W.-Y. (Proc. Natl. Acad. Sci. U.S.A. 2001) 3 4 23
  4. Association of a functional polymorphism in the IRF5 region with systemic sclerosis in a Japanese population. (PMID: 19479858) Ito I. … Tsuchiya N. (Arthritis Rheum. 2009) 3 23 48
  5. Next-generation sequencing identifies transportin 3 as the causative gene for LGMD1F. (PMID: 23667635) Torella A. … Nigro V. (PLoS ONE 2013) 2 3 4

Products for TNPO3 Gene

Sources for TNPO3 Gene

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